HIP1 wt Allele

Preferred Label : HIP1 wt Allele;

NCIt synonyms : Huntingtin Interacting Protein 1 wt Allele; ILWEQ; MGC126506;

NCIt definition : Human HIP1 wild-type allele is located in the vicinity of 7q11.23 and is approximately 206 kb in length. This allele, which encodes Huntingtin-interacting protein 1, is involved in the regulation of both endocytosis and clathrin-coated vesicle formation. A chromosomal translocation t(5;7)(q33;q11.2) of this gene and the PDGFRB gene is associated with chronic myelomonocytic leukemia.;

GenBank Accession Number : AF052288;

Details

Origin ID

C97538;

UMLS CUI

C3273477;

OMIM relation
- Huntingtin-interacting protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q11.23 [NCIt concept]
gene_is_element_in_pathway
- Coregulation Pathway for Androgen Receptor Activity [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Caspase Activation [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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